Sistermans EA - Search Results

1

Complete sequence analysis of the A*1103 allele.

Tijssen HJ, Sistermans EA, van den Beucken M, Krausa P, Joosten I. Tijssen HJ, et al. Among authors: sistermans ea. Tissue Antigens. 2000 Jan;55(1):68-70. doi: 10.1034/j.1399-0039.2000.550113.x. Tissue Antigens. 2000. PMID: 10703613

2

A unique second donor splice site in the intron 5 sequence of the HLA-A*11 alleles results in a class I transcript encoding a molecule with an elongated cytoplasmic domain.

Tijssen HJ, Sistermans EA, Joosten I. Tijssen HJ, et al. Among authors: sistermans ea. Tissue Antigens. 2000 May;55(5):422-8. doi: 10.1034/j.1399-0039.2000.550504.x. Tissue Antigens. 2000. PMID: 10885562

3

Tissue- and cell-specific distribution of creatine kinase B: a new and highly specific monoclonal antibody for use in immunohistochemistry.

Sistermans EA, de Kok YJ, Peters W, Ginsel LA, Jap PH, Wieringa B. Sistermans EA, et al. Cell Tissue Res. 1995 May;280(2):435-46. doi: 10.1007/BF00307817. Cell Tissue Res. 1995. PMID: 7781040 Free article.

4

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.

Sistermans EA, de Coo RF, De Wijs IJ, Van Oost BA. Sistermans EA, et al. Neurology. 1998 Jun;50(6):1749-54. doi: 10.1212/wnl.50.6.1749. Neurology. 1998. PMID: 9633722

5

Low frequency of MECP2 mutations in mentally retarded males.

Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BB, Nillesen W, Sistermans EA, Brunner HG, Hamel BC, van Bokhoven H. Yntema HG, et al. Among authors: sistermans ea. Eur J Hum Genet. 2002 Aug;10(8):487-90. doi: 10.1038/sj.ejhg.5200836. Eur J Hum Genet. 2002. PMID: 12111644

6

CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.

Stikkelbroeck NM, Hoefsloot LH, de Wijs IJ, Otten BJ, Hermus AR, Sistermans EA. Stikkelbroeck NM, et al. Among authors: sistermans ea. J Clin Endocrinol Metab. 2003 Aug;88(8):3852-9. doi: 10.1210/jc.2002-021681. J Clin Endocrinol Metab. 2003. PMID: 12915679

7

A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes.

de Coo IF, Sistermans EA, de Wijs IJ, Catsman-Berrevoets C, Busch HF, Scholte HR, de Klerk JB, van Oost BA, Smeets HJ. de Coo IF, et al. Among authors: sistermans ea. Neurology. 1998 Jan;50(1):293-5. doi: 10.1212/wnl.50.1.293. Neurology. 1998. PMID: 9443499

8

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.

Koolen DA, Sistermans EA, Nilessen W, Knight SJ, Regan R, Liu YT, Kooy RF, Rooms L, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, van Kessel AG, Nordenskjold M, de Vries BB. Koolen DA, et al. Among authors: sistermans ea. Eur J Hum Genet. 2008 Mar;16(3):395-400. doi: 10.1038/sj.ejhg.5201975. Epub 2008 Jan 9. Eur J Hum Genet. 2008. PMID: 18159213

9

A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family.

Sistermans EA, de Wijs IJ, de Coo RF, Smit LM, Menko FH, van Oost BA. Sistermans EA, et al. Hum Genet. 1996 Mar;97(3):337-9. doi: 10.1007/BF02185767. Hum Genet. 1996. PMID: 8786077 Free article.

10

Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

Sistermans EA, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA. Sistermans EA, et al. Eur J Hum Genet. 2000 Jul;8(7):557-60. doi: 10.1038/sj.ejhg.5200477. Eur J Hum Genet. 2000. PMID: 10909858

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